A Consultant at Manchester University Hospitals NHS Foundation Trust and The Christie NHS Foundation Trust, Professor Evans has established a national and international reputation in clinical and research aspects of cancer genetics, particularly in neurofibromatosis, schwannomatosis and breast cancer. Professor Evans is a chair of medical genetics and cancer epidemiology at the University of Manchester. He has published 1130 peer reviewed research publications, 358 as first or senior author as well as over 160 reviews, letters and chapters. In the last eight years he has raised over £75 million in grants for multicentre and local studies. He is Chief Investigator on two NIHR program grants on breast cancer risk prediction and also has an NIHR RfPB grant as CI (2011). He has led a successful bid for a Nationally funded NF2 service (£7.5 million pa) that started in 2010 and is involved in the national complex NF1 service. He was the cancer prevention early detection theme leader on the NIHR Manchester Biomedical Research Centre. Professor Evans is also lead clinician on the NICE Familial Breast Cancer Guideline Group.

Eric Legius is a clinician scientist. His research was targeted towards neurofibromatosis type 1 and related conditions. He contributed successfully towards the understanding of the molecular aetiology of a number of tumours in neurofibromatosis type 1 (NF1) . He was involved in the identification of the polycomb repressor complex type 2 for the development of malignant peripheral nerve sheath tumours in NF1. In 2007 his research team identified a new condition resembling neurofibromatosis type 1, now known as Legius syndrome (autosomal dominant condition caused by a heterozygous mutation in SPRED1). Eric Legius contributed to the revised diagnostic criteria for NF1, Legius syndrome, and the schwannomatoses (NF2-related, SMARCB1-related, LZTR1-related). He was a senior author on the recent publication of guidelines by the European Reference Network GENTURIS concerning the surveillance and treatment of NF1-related tumours. Eric Legius retired from active patient management in October 2023.

Andrea “Andi” McClatchey is the Poitras Family Professor of Oncology at Massachusetts General Hospital and Harvard Medical School, and was named the 2011 Scott and Patricia Eston MGH ECOR Research Scholar in 2011. Dr. McClatchey received her PhD in Genetics from Harvard Medical School and completed postdoctoral training in the laboratory of Tyler Jacks at the Massachusetts Institute of Technology before joining the faculty at MGH and Harvard Medical School. In addition to running a research program, Dr. McClatchey is co-leader of the Landry Cancer Biology Consortium for graduate students at Harvard Medical School and devotes considerable time to the training and mentoring of graduate students. Dr. McClatchey’s research is dedicated to understanding the molecular basis of the familial tumor syndrome neurofibromatosis type 2 (NF2) and using that insight to develop and test new treatments for NF2. Her work has uncovered key aspects of how the NF2 protein Merlin functions and revealed fundamental rules by which all cells organize their outer membrane so as to appropriately interface with their environment. She actively engages in translating these fundamental scientific discoveries toward new therapeutic strategies for NF2 patients.

Vanessa Merker, PhD is a health services researcher at Massachusetts General Hospital (MGH) and an Assistant Professor of Neurology at Harvard Medical School. Dr. Merker serves as the Director of Research at the MGH Family Center for Neurofibromatosis and Schwannomatosis, where she works to improve the accessibility, quality, and patient-centeredness of clinical trials and clinical care for all types of NF. As PI of multiple federal and foundation-sponsored grants, Dr. Merker is currently testing methods to educate NF1 patients and their primary care providers about NF1 care guidelines, and developing new patient-reported outcome measures for NF1 and NF2-related schwannomatosis. She is chair of the patient representative working group of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration, co-chair of the quality of life committee in the NF Clinical Trials Consortium, and a member of CTF's Clinical Care Advisory Board.

Dr. Ratner is interested in the brain in Neurofibromatosis type 1 and Rasopathies, and in peripheral nerve tumors that occur in the Neurofibromatoses, NF1 and NF2. She uses genomics, animal, and cell culture models to study neurofibroma formation and neurofibroma therapeutics. Ratner received her bachelor's degree from Brown University, her doctorate from Indiana University, Bloomington (during which time she was a student in the Neurobiology Course at MBL), and was a postdoctoral fellow at Washington University in St. Louis. A member of the faculty at the University of Cincinnati from 1987 – 2004, she is currently a Professor in the Department of Pediatrics, Cincinnati Children’s Hospital, University of Cincinnati, and the Program Leader for Cancer Biology and Neural Tumors Program in the Cancer and Blood Disorders Institute where she also co-Leads the Rasopathy Program and holds the Beatrice C. Lampkin Endowed Chair in Cancer Biology. She has served on numerous national and international review panels and authored over 100 peer-reviewed manuscripts and 30 reviews. She was awarded the von Recklinghausen Award in 2010, and received a Jacob K. Javits NIH Neuroscience Investigator Award in 2014.

Eduard “Edu” Serra is a researcher at the Germans Trias i Pujol Research Institute (IGTP), Badalona (Barcelona), Spain. He received his PhD in Biology from the University of Barcelona and performed a postdoctoral training at the Molecular Sciences Institute, Berkeley, California. Dr. Serra started working on Neurofibromatosis type 1 in 1995 in the lab of Dr. Conxi Lázaro, and continued in the NF field since then, except the postdoctoral period at Berkeley. At IGTP, he combined the running of a Neurofibromatosis research lab with the genetic diagnostics of NF patients (2009-2019). Recently he focused his efforts only in research, especially in the NF1-associated peripheral nervous system tumors. His group is interested in the origin, progression and therapeutic response of neurofibromas and MPNSTs; in the molecular bases of NF pathogenesis and on finding new therapeutic approximations. His group uses genomics and integrative biology analyses and generates and uses cell-based model systems, like induced pluripotent stem cells (iPSCs) and 3D systems. Dr. Serra participates in the Neurofibromatoses Clinical Reference Center in Spain and is a close collaborator of different local and international NF Patient Associations.

Dr. Sun obtained his PhD degree in Molecular Biology and Genetics by studying mechanisms of Neurofibromatosis Type 1 (NF1)-associated Malignant Peripheral Nerve Sheath Tumors (MPNST) at School of Medicine, Wayne State University. He further received postdoctoral training from the Developmental Biology Department at the University of Texas, Southwestern Medical Center, and Cancer Biology and Genetics program in Memorial Sloan Kettering Cancer Center. His works emphasize the cell-of-origins of the tumor, and he identified a stem-like cell population playing essential roles in tumorigenesis, relapse, and metastasis of NF1-associated plexiform neurofibromas and MPNST. These discoveries may provide novel strategies to prevent tumor transformation, progression, chemoresistance, and metastasis.

A Consultant at Manchester University Hospitals NHS Foundation Trust and The Christie NHS Foundation Trust, Professor Evans has established a national and international reputation in clinical and research aspects of cancer genetics, particularly in neurofibromatosis, schwannomatosis and breast cancer. Professor Evans is a chair of medical genetics and cancer epidemiology at the University of Manchester. He has published 1130 peer reviewed research publications, 358 as first or senior author as well as over 160 reviews, letters and chapters. In the last eight years he has raised over £75 million in grants for multicentre and local studies. He is Chief Investigator on two NIHR program grants on breast cancer risk prediction and also has an NIHR RfPB grant as CI (2011). He has led a successful bid for a Nationally funded NF2 service (£7.5 million pa) that started in 2010 and is involved in the national complex NF1 service. He was the cancer prevention early detection theme leader on the NIHR Manchester Biomedical Research Centre. Professor Evans is also lead clinician on the NICE Familial Breast Cancer Guideline Group.

Gurcharanjeet (Bonnie) Kaur, MD is an assistant professor of neurology at CUIMC. She completed residency in both pediatric neurology and neuro-oncology at Stony Brook University Medical Center and Memorial Sloan Kettering Cancer Center, respectively. Dr. Kaur is a board-certified child neurologist and pediatric neuro-oncologist, with particular interest in neurofibromatosis (NF) and NF-related tumors, cancer related neurotoxicity, and tumor targeted therapy for low grade gliomas. Dr. Kaur is dedicated to helping children while minimizing the toxicities and residual deficits by providing the highest quality of care and access to recent advances in the field. Dr. Kaur remains committed to clinical and pre-clinical research. She has been involved in the clinical trials as a site principal investigator and co-investigator. She mentors’ residents, fellows, and medical students interested in the field of child neurology and neuro-oncology

Dr Laura Klesse is a pediatric neuro-oncologist who specializes in the care of patients with neurofibromatosis and central nervous system tumors. Dr Klesse obtained her PhD in the laboratory of Dr Luis Parada studying the signaling cascades involved in tumor formation in NF1, followed by her pediatric oncology training at UT Southwestern. Dr. Klesse is currently the Director of the Comprehensive Neurofibromatosis Program at UT Southwestern and Children’s Health in Dallas, Texas. She serves as the site’s principal investigator for the Children’s Oncology Group, the National NF Clinical Trials Consortium and the Pediatric Early Phase Clinical Trials Network. She serves as Vice-Chair of the Children’s Tumor Foundation’s Clinical Care Advisory Board and the co-chair of the UT Southwestern Simmons Cancer Center Protocol Review Board.

Dr. Na is a pediatric and adult neuro-oncologist at the UCSF Brain Tumor Center and one of the few specialists in the country with an active practice treating both pediatric and adult brain and spinal cord tumors. Along with Dr. Alyssa Reddy, he serves as Co-Director of the UCSF Comprehensive Neurofibromatosis Center, the only CTF-designated Comprehensive NF-1 and Schwannomatosis Center in California. His research focuses on translational and clinical studies in neurofibromatosis and schwannomatosis, working to advance novel discoveries from the laboratory into clinical practice through clinical trials. With expertise in both pediatric and adult neuro-oncology, he is also dedicated to optimizing survivorship for pediatric neuro-oncology patients and improving care for adults with traditionally pediatric neuro-oncologic conditions. Dr. Na earned his bachelor's degree in History and Science from Harvard College and his medical degree from Drexel University College of Medicine. He completed his pediatrics residency at Case Western Reserve University and a pediatric hematology/oncology fellowship at UCLA. Inspired by his patients, he pursued further training while serving as a pediatric neuro-oncologist, earning a Ph.D. in Molecular and Medical Pharmacology at UCLA through the prestigious STAR Program, mentored by Dr. Marco Giovannini, in conjunction with an additional fellowship in adult neuro-oncology, where he was mentored by Dr. Leia Nghiemphu in caring for adult NF and SWN patients.

Dr. Nghiemphu is a Neuro-Oncologist with training in Neurology and is the Director of Neuro-Oncology Clinical Service and the Director of the Neuro-Oncology Fellowship Program. She is also the Clinical Director of the UCLA Neurofibromatosis and Schwannomatosis Program. She has a special interest in the treatment of patients with primary brain & nervous system tumors using individualized molecular targeted therapies. She has been either Principal Investigator or co-Investigator in hundreds of clinical trials for brain tumor. She also collaborates with several clinical and basic researchers in translational studies evaluating molecular targeted therapies and treatment for genetic causes of tumors. Her goal is to improve treatments for nervous system tumors that have rational molecular basis for individualized therapies and advance quality of care for patients with these tumor diseases, especially young adult patients with genetic predisposition for tumors and cancers and survivors of brain cancers.

Dr. Tena Rosser is an Associate Professor of Pediatrics and Neurology at the Children’s Hospital Los Angeles which is affiliated with the USC Keck School of Medicine. She is the director of the CHLA Children’s Tumor Foundation-endorsed Neurofibromatosis Clinic which opened in 2005. She is also a member of the Children’s Tumor Foundation’s Clinical Care Advisory Board and the 2015 recipient of CTF Humanitarian Award. Dr. Rosser serves as the Los Angeles site Principal Investigator for the U.S. Army Department of Defense NF Consortium which coordinates multi-center clinical trials for individuals with NF1 and Schwannomatosis. She is a member of the DOD NF Consortium Quality of Life and Neurocognitive Committees. She cares for many children and adults with both NF1 and Schwannomatosis. She is a collaborator on translational NF1 and Schwannomatosis research projects with researchers across the country.

Dr. Benjamin Siegel is a neurologist and neuro-oncologist at Children’s National Hospital, where he serves as the clinical co-director of the Gilbert Family Neurofibromatosis Institute. He is the site principal investigator for the Neurofibromatosis Clinical Trials Consortium and the Glioma Research Center at Children’s National. His clinical and research focus is on children with neurofibromatosis and tumors of the central and peripheral nervous system.

Dr. Ullrich completed her medical and graduate degrees at Yale University followed by residency in Pediatrics and Neurology at Boston Children’s Hospital, where she then did her fellowship in NeuroOncology before joining the faculty in the Department of Neurology. Her research focuses on neurologic and oncologic complications of NF1 and the long-term neurologic complications of childhood systemic cancer and brain tumors. Dr. Ullrich has been involved in the design and execution of clinical trials for complications of NF through the Neurofibromatosis Clinical Trials Consortium, where she is currently the site principal investigator for the Harvard site that includes Boston Children’s Hospital, Dana-Farber Cancer Institute and Massachusetts General Hospital. Within the consortium, she is former chair of the Low Grade Glioma committee and currently co-chair of the Neurocognitive Committee. She serves as co-Chair of the Clinical Research Award committee and is a member of the Clinical Care Advisory Board for the Children’s Tumor Foundation. Lastly, she serves on the board of NF Northeast. Dr. Ullrich recently participated in the international working groups to revise and update the diagnostic criteria for the neurofibromatoses and in the updated AAP health supervision guidelines for children with NF1.

Dr. Yohay is an Associate Professor of Neurology and Pediatrics (Clinical) and Director of the NYU Langone Health Comprehensive Neurofibromatosis Center in New York City, one of the largest and most active neurofibromatosis clinics in the United States. After earning his medical degree at the University of Vermont in 1993, he completed his pediatrics and neurology residency at Johns Hopkins Hospital in Baltimore Maryland. While on faculty at Johns Hopkins, he co-founded the Johns Hopkins Neurofibromatosis Center. His medical practice is devoted entirely to the care of children and adults with NF1, NF2 and schwannomatosis. Dr. Yohay’s research career has focused on the development and implementation of new therapeutics for neuro-oncologic and neuro-genetic disorders, including clinical trials for neurofibromatosis. Dr. Yohay was a full member of the CTF CCAB from 2016-2022 and has been a key contributor on several CCAB projects since 2023.

Dr. Robert A. Avery is a pediatric Neuro-Ophthalmologist in the Division of Ophthalmology at The Children’s Hospital of Philadelphia and holds the Richard Shafritz Endowed Chair in Pediatric Ophthalmology Research. Dr. Avery is also an associate Professor of Ophthalmology and Neurology at the University of Pennsylvania’s Perelman School of Medicine. Dr. Avery’s unique clinical and research expertise enables him to perform cutting-edge research involving multiple disciplines, including neuro-oncology, radiology, ophthalmic imaging, neurosurgery, neurology and ophthalmology. His primary research interest investigates advanced ocular and brain imaging methods for monitoring and treating children with brain tumors affecting their vision. He is the principal investigator of two grants from the National Cancer Institute and one grant from the National Eye Institute that investigate visual outcomes in low grade gliomas known as “optic pathway gliomas (OPGs)”. He is passionate about the ophthalmic care of children with Neurofibromatosis type 1 (NF1). He is the lead ophthalmologist for a phase-2 and three different phase-3 clinical trials testing treatments for children with brain tumors causing blindness. He is also part of the Gilbert Family Foundation’s “Visual Restoration Initiative”, a multi-disciplinary team engaged to develop first-in-kind therapies to restore sight in children with Neurofibromatosis type 1.

Experienced biomedical medical data scientist with 7 years of expertise in bioinformatics, specializing in dataset management and analysis. Proven success in the field, highlighted by winning two NF hackathons, a hackathon incubation prize, and receiving the prestigious AACR Scholar-in-Training Award. Demonstrated proficiency in developing data management protocols for clinical, genomic, and real-world datasets. Adept at cross-disciplinary teamwork, I excel in machine learning analysis and advocate for data sharing in biomedical research. My background is ideal for roles requiring a blend of technical expertise and collaborative leadership in data-driven research environments. Additionally, I hold a Clinical Translational Research Certificate of Added Qualification, gained through clinical shadowing with breast surgeons and physicians.

Sanjay Aneja, MD is an Assistant Professor within the Department of Therapeutic Radiology at Yale School of Medicine. Dr. Aneja is a physician scientist whose research group is focused on the application of machine learning techniques on clinical oncology. He received his medical degree from Yale School of Medicine and served as class president. During medical school he completed a research fellowship at the Department of Health and Human Services in large scale data analysis. He later completed his medicine internship at Memorial Sloan Kettering Cancer Center followed by his residency in radiation oncology at Yale-New Haven Hospital. During his residency he completed his post-doc in machine learning at the Center for Outcomes Research and Evaluation (CORE) receiving research grant from IBM Computing. He is currently a recipient of an NIH Career Development award, an NSF research grant, and an American Cancer Society research award.

Assoc. Prof. Dr. Amedeo A. Azizi is head of the Neurofibromatosis expertise centre at the Department of Paediatrics and Adolescent Medicine, Medical University of Vienna (MUV), Austria. After graduation at the University of Vienna in 2003 A. Azizi started his training as paediatrician at the General hospital in Vienna where he also completed his specialisation as paediatric neuro-oncologist and works as attending physician. He became head of the Neurofibromatosis program in 2017 and was appointed as associate professor in 2018. The same year the NF centre was nominated and approved as associated centre to the European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS). A. Azizi is part of the clinical care advisory board (CCAB) of CTF Europe since 2020. A. Azizi’s area of expertise and main research areas include paediatric low grade (LGG) and high grade glioma (HGG). He is member of the SIOPE LGG working group and the Austrian lead of the SIOP Europe low grade glioma study. A main focus lies on the high-risk group of infants with hypothalamic glioma. He was part of the trial steering group of HERBY, the largest prospective trial run in paediatric HGG so far. In the Neurofibromatosis clinic Azizi follows paediatric patients with NF1, NF2 and Schwannomatosis with and without malignancies. In Neurofibromatosis type 1 (NF1) associated conditions A. Azizi has focussed on NF1 associated optic pathway glioma with special interest in identifying factors associated with visual outcome. Furthermore, he studies the potential of functional imaging methods such as FDG-PET in the early detection of NF1 associated malignant peripheral nerve sheath tumours in asymptomatic patients in order to identify premalignant and undiagnosed lesions.

Dr. Frank D. Buono is an Associate Research Scientist in the Department of Psychiatry at Yale School of Medicine. He completed his postdoctoral appointment at Yale School of Medicine after obtaining a Masters and Doctorate degree at Southern Illinois University in Applied Behavior Analysis. Additionally, Dr. Buono was diagnosed with Neurofibromatosis Type 2 (NF2) at the age of nine. This, along with his professional training, provides him with a deeper understanding of the physical and clinical manifestations of the disease, as well the co-occurring diseases and disorders. He is funded through Congressionally Directed Medical Research Program (CDMRP) and other private organizations. His talk will be on the qualitative understanding of pain interests across medical experts and individuals suffering from NF1.

Dr. Chase is a board-certified Pediatric Dentist and an Assistant Professor at the Harvard School of Dental Medicine. She completed her dental degree at Dalhousie School of Dentistry (Canada) in 2000 and Pediatric Dental specialty at the University of Rochester and Eastman Dental Center in 2002. Dr. Chase joined the faculty of Boston Children’s Hospital and the Harvard School of Dental Medicine in 2006. She is the Post-graduate Program Director in Pediatric Dentistry. In the past 24 years she has taught over 90 pediatric dental residents and over 500 dental students. Outside of teaching, Dr. Chase provides patient care either in the clinical setting or the operating room with a focus on the management of young, anxious patients and patients with special health care needs, with a particular focus on children with autism and Down syndrome. She serves on a number of committees, including the Sedation Executive Committee at BCH, the exam committees for the American Board of Pediatric dentistry, and the Royal College of Dentists of Canada, and on both the Council of Clinical Affairs and Evidence Based Dentistry committees for the American Academy of Pediatric Dentistry, and is a member of the Determination Panel for the Non-discrimination, anti-bullying committee at Harvard School of Dental medicine. Outside of work she enjoys running and spending time with her husband, two children and two dogs.

Dr Laura Klesse is a pediatric neuro-oncologist who specializes in the care of patients with neurofibromatosis and central nervous system tumors. Dr Klesse obtained her PhD in the laboratory of Dr Luis Parada studying the signaling cascades involved in tumor formation in NF1, followed by her pediatric oncology training at UT Southwestern. Dr. Klesse is currently the Director of the Comprehensive Neurofibromatosis Program at UT Southwestern and Children’s Health in Dallas, Texas. She serves as the site’s principal investigator for the Children’s Oncology Group, the National NF Clinical Trials Consortium and the Pediatric Early Phase Clinical Trials Network. She serves as Vice-Chair of the Children’s Tumor Foundation’s Clinical Care Advisory Board and the co-chair of the UT Southwestern Simmons Cancer Center Protocol Review Board.

Dr. Tena Rosser is an Associate Professor of Pediatrics and Neurology at the Children’s Hospital Los Angeles which is affiliated with the USC Keck School of Medicine. She is the director of the CHLA Children’s Tumor Foundation-endorsed Neurofibromatosis Clinic which opened in 2005. She is also a member of the Children’s Tumor Foundation’s Clinical Care Advisory Board and the 2015 recipient of CTF Humanitarian Award. Dr. Rosser serves as the Los Angeles site Principal Investigator for the U.S. Army Department of Defense NF Consortium which coordinates multi-center clinical trials for individuals with NF1 and Schwannomatosis. She is a member of the DOD NF Consortium Quality of Life and Neurocognitive Committees. She cares for many children and adults with both NF1 and Schwannomatosis. She is a collaborator on translational NF1 and Schwannomatosis research projects with researchers across the country.

Kavita Sarin, M.D./Ph.D., is a Professor of Dermatology and is the Director of the Stanford Skin Cancer Genetics Program at the Stanford Cancer Institute. She has an academic interest in Precision Medicine, focused on the integration of genetic and clinical patient data to inform susceptibility, prognosis, and treatments in skin cancer and other rare dermatologic disorders. Her lab applies cutting-edge sequencing and imaging technologies to better understand skin cancer and rare immunologic skin diseases. She sees patients in medical dermatology at Portola Valley and the Stanford Cancer Institute.

Dr. Welling is the Walter Augustus Lecompte Professor and Chair of the Harvard Department of Otolaryngology and is the Chief of Otolaryngology at Massachusetts Eye and Ear Infirmary and Massachusetts General Hospital. He received his undergraduate Bachelor of Arts in Chemistry, with a minor in Japanese, and Doctor of Medicine degree from the University of Utah. His Otolaryngology Head and Neck Surgery residency was completed at the University of Iowa and his fellowship in Otology, Neurotology, and Cranial Base Surgery was completed in affiliation with Vanderbilt University. He completed a PhD in pathobiology at The Ohio State University. Dr. Welling’s professional activities include teaching, research, patient care and administration. He has participated the training of medical students, otolaryngology residents, neurotology fellows and graduate students throughout his career. His research interests have centered on vestibular schwannomas and identifying new treatment options for neurofibromatosis type 2 patients to decrease morbidity and prolong quality of life. Funding from the National Institute on Deafness and Communication Disorders (NIDCD), the Department of Defense and the Children’s Tumor Foundation have supported this work. Clinically, Dr. Welling performs surgical treatment of ear and cranial base tumors and related diseases. Dr. Welling served as chair the Department of Otolaryngology Head and Neck Surgery at The Ohio State University and is the current chair with Harvard. He has been a leader in the Triological Society, the president of the American Neurotology Society, the president of the American Otological Society and a member of the Residency Review Committee of the Accreditation Council on Graduate Medical Education (ACGME). He is the US President of the Collegium Oto-Rhino-Laryngologicum Amictiae Sacrum (CORLAS) and a member of the Board of Directors of the American Board of Otolaryngology. He has published over 100 manuscripts in peer-reviewed journals and is currently the Editor-in-Chief of the Laryngoscope Investigative Otolaryngology journal. Among his awards, the one he holds most dear is the Award of Appreciation he received from the NF2 Crew for participation in their annual conferences, and the Award of Excellence in Science from the Children’s Tumor Foundation.

Dr. Dombi received her M.D. at the Semmelweis University, Budapest, Hungary. She completed her pediatric residency training in Budapest, Hungary, prior to moving with her family to the United States. She has been a PET Section member since 2002. Dr. Dombi leads the PET Section Imaging Program. One of her many roles has been the support of research efforts related to the development of novel medical treatments for children and young adults with neurofibromatosis type 1 (NF1) and plexiform neurofibromas. Dr. Dombi had a critical role in the development and validation of a novel method of image analysis for these tumors, which is now used in most ongoing clinical trials nationwide to assess the primary endpoint of disease progression. Dr. Dombi performs central response evaluation of plexiform neurofibromas using volumetric MRI on multiple clinical trials. In addition, Dr. Dombi has several ongoing collaborations with extramural investigators.

Dr. Gross is a pediatric oncologist who focuses on clinical trials research and tumor predisposition syndromes, such as neurofibromatosis type 1 (NF1). Her areas of interest include developing and utilizing functional outcome measures for tumor predisposition syndromes, working with rare disease patient advocates to increase patient engagement in clinical trial design and dealing with the challenge of medication adherence in the NF1 population.

Gordon J. Harris, Ph.D. - Dr. Harris is Professor of Radiology at Harvard Medical School, Director of the 3D Imaging Service, Radiology Computer Aided Diagnostics Laboratory, Radiology Clinical Trials Program and co-Director of the Radiology Consulting Group at the Massachusetts General Hospital, and co-Director of the Tumor Imaging Metrics Core for the Dana-Farber/Harvard Cancer Center. He is also Co-Founder and Chief Science Officer of Yunu, Inc., a clinical trials imaging informatics platform managing over 5,000 active clinical trials for over 25% of all NCI-designated Comprehensive Cancer Centers and over 400 pharmaceutical companies. He has published over 150 scientific articles and book chapters. In addition to developing software and services applying computer analyses of medical images to aid in diagnosis, treatment planning, and clinical trials, his primary research interests include structural and functional brain imaging research in psychiatric and neurologic illnesses including alcoholism and stroke, as well as quantitative tracking of tumors for clinical care and clinical trials. Dr. Harris is co-Founder of the open-source web based medical imaging platform, Open Health Imaging Foundation (OHIF), used globally by thousands of academic and industry imaging projects and products.

Dr. Inka Ristow is an attending radiologist working at the University Medical Center Hamburg-Eppendorf, Germany.  Her research focuses on MRI techniques to differentiate benign from malignant peripheral nerve sheath tumors in NF1, as well as the development of AI-based tools to facilitate PNF tumor volumetry.

Dr. Sullivan is a Research Associate Professor at the Boston University School of Public Health department of Environmental Health and the former Associate Scientific Director for the Congressionally-directed Research Advisory Committee (RAC) on Gulf War Veterans' Illnesses. She is a behavioral neuroscientist and the Principal Investigator (PI) on the large multi-site Gulf War Illness Consortium (GWIC) that includes 9 study sites and is designed to determine the pathobiology of Gulf War Illness (GWI). She is also the PI of the large, multi-site Gulf War Illness Biorepository Network (BBRAIN) designed to share biospecimens and foster collaboration with other GWI researchers. She is also site PI for multiple treatment trials including Co-enzyme Q10 and D-cycloserine to treat cognitive and fatigue problems in veterans with GWI and multiple phase I/II trials of the multi-site GWI Clinical Trials Consortium (GWICTIC). Dr. Sullivan has worked in the field of aging and behavioral neurotoxicology since 1992. She has also coordinated field studies in neurotoxicology (i.e., pesticides, methylmercury), neurobehavioral outcomes and the effects of physical stressors and genetic predisposition to disease on cognitive functioning in Alzheimer's disease, stroke and Parkinson disease.

John Forsayeth is Professor Emeritus of Neurological Surgery at the University of California San Francisco (UCSF). He received his Ph.D. in Biochemistry from Monash University, Australia, in 1984 and subsequently did two post-doctoral fellowships at UCSF in the Department of Physiology. In 1989, he moved to the UCSF Department of Anesthesia to start his own laboratory where he was promoted to Assistant Professor. In 1997, he was appointed Director of Molecular Biology at Neurex Corporation in Menlo Park, CA. The Company was subsequently acquired by Elan Inc. At Elan, he was promoted to Principal Scientist and asked to establish a Parkinson’s disease research team. In 2001, he moved to Avigen Inc., Alameda, CA, to become Director of Neurobiology. In 2004, he returned to UCSF to join the laboratory of Dr. Krystof Bankiewicz and, in 2009, was promoted to Adjunct Professor. He is the founder of three biotechnology Companies, Xalud Therapeutics, Rio Pharmaceuticals and Immunologic. He serves as Executive Chairman at Rio Pharmaceuticals and CEO at Immunologic.

Professor Mark Hutchinson is a pioneering researcher and academic leader who serves as the Director of the Institute for Photonics and Advanced Sensing (IPAS) at the University of Adelaide. His groundbreaking work in neuroimmunopharmacology has revolutionised our understanding of the "other brain" - the 90% of brain cells known as glia - and their crucial role in pain, addiction, and various neurological conditions. As head of the Neuroimmunopharmacology Laboratory, he has developed innovative approaches to biomarker identification and complex data analytics, successfully bridging the gap between laboratory discoveries and clinical applications. In recognition of his exceptional contributions to science and leadership, Professor Hutchinson holds several prestigious appointments, including membership on the Prime Minister's National Science and Technology Council and Australia's Economic Accelerator board member. He chairs the Safeguarding Australia through Biotechnology Response and Engagement (SABRE) Alliance and the Australian Pain Solutions Research Alliance board, while his previous roles as President of Science and Technology Australia, review of the ARC Legislation and as Director of the ARC Centre of Excellence for Nanoscale BioPhotonics have strengthened Australia's scientific landscape. His research has pioneered novel drug activity at innate immune receptors, leading to transformative clinical applications that have advanced from laboratory concepts to bedside treatments. Professor Hutchinson's impact extends beyond academic achievements, with his work fostering strong industry partnerships and commercial translations. His leadership has been celebrated through numerous accolades, including being named a 2024 Finalist for the Eureka Prize for Leadership in Science and receiving the Vice-Chancellor's Award for Outstanding Achievement in creating a Culture of Impact. Through his research and leadership, he continues to drive innovation in biomedical science while advocating for greater engagement between researchers, industry, and the broader community.

Dr. Jaishri Blakeley is the Marjorie Bloomberg Tiven Professor of Neurofibromatosis in Neurology, Oncology and Neurosurgery at Johns Hopkins School of Medicine, director of the Johns Hopkins Comprehensive Neurofibromatosis Center (JHCNC) and director of the Neurofibromatosis Therapeutic Acceleration Program (NTAP). She is an active clinician scientist with research expertise in the development of clinical trials for nervous system tumors. Specifically, her expertise is in early clinical-translational studies including tumor pharmacokinetic and pharmacodynamic investigations, imaging biomarkers for rare nervous system tumors and incorporation of patient focused, functional endpoints into efficacy studies. She has been the national or international leader of seven clinical trials focused on therapies for glioblastoma, Neurofibromatosis Type 2 (NF2) and Neurofibromatosis Type 1 (NF1). In 2012 she cofounded the Neurofibromatosis Therapeutic Acceleration Program (NTAP) to dramatically shift the landscape of NF1 clinical care via necessary, efficient and expert discovery, translational and clinical research. NTAP focuses on therapeutics, fosters collaboration, facilitates open and timely sharing of results, and streamlines the research process to accelerate therapies for plexiform and cutaneous neurofibromas. Through NTAP, Dr. Blakeley has supported and collaborated with more than 60 laboratories and research teams across the globe enabling meaningful therapeutic development for NF1 associated neoplasms. The results have been a transformation of the research landscape for both plexiform and cutaneous neurofibromas, including contribution to the development of MEKi inhibitors and device based treatments for these tumors. In addition, NTAP has facilitated a culture of team science that supports all stakeholders in the research process and maximizes the value of each investigation and contributor. Her research and programmatic efforts are all in the service of improving outcomes for the patients with NF1, the schwannomatoses and primary brain cancer for whom she is honored to provide care.

Thomas DeRaedt, PhD, is an investigator with the Center for Childhood Cancer Research at Children's Hospital of Philadelphia.

Andrea “Andi” McClatchey is the Poitras Family Professor of Oncology at Massachusetts General Hospital and Harvard Medical School, and was named the 2011 Scott and Patricia Eston MGH ECOR Research Scholar in 2011. Dr. McClatchey received her PhD in Genetics from Harvard Medical School and completed postdoctoral training in the laboratory of Tyler Jacks at the Massachusetts Institute of Technology before joining the faculty at MGH and Harvard Medical School. In addition to running a research program, Dr. McClatchey is co-leader of the Landry Cancer Biology Consortium for graduate students at Harvard Medical School and devotes considerable time to the training and mentoring of graduate students. Dr. McClatchey’s research is dedicated to understanding the molecular basis of the familial tumor syndrome neurofibromatosis type 2 (NF2) and using that insight to develop and test new treatments for NF2. Her work has uncovered key aspects of how the NF2 protein Merlin functions and revealed fundamental rules by which all cells organize their outer membrane so as to appropriately interface with their environment. She actively engages in translating these fundamental scientific discoveries toward new therapeutic strategies for NF2 patients.

Dawn Quelle is a Professor of Neuroscience & Pharmacology and Pathology at the University of Iowa Carver College of Medicine. Her laboratory studies druggable mechanisms of tumor pathogenesis with a focus on neuroendocrine tumors (NETs) and malignant peripheral nerve sheath tumors (MPNSTs). Her investigations are highly collaborative and benefit from the input of both basic and clinical scientists. Currently, her research explores the role of an oncogenic GTPase, named RABL6A, and its regulators as well as downstream targets in NETs and MPNSTs. Findings have identified novel combination therapies that effectively suppress both cancer types in preclinical tumor models, and excitingly, sensitize tumors to immune checkpoint blockade therapy. Dr. Quelle’s team is working with clinical colleagues to translate those discoveries into new treatment options for NET and MPNST patients.

Dr. Ratner is interested in the brain in Neurofibromatosis type 1 and Rasopathies, and in peripheral nerve tumors that occur in the Neurofibromatoses, NF1 and NF2. She uses genomics, animal, and cell culture models to study neurofibroma formation and neurofibroma therapeutics. Ratner received her bachelor's degree from Brown University, her doctorate from Indiana University, Bloomington (during which time she was a student in the Neurobiology Course at MBL), and was a postdoctoral fellow at Washington University in St. Louis. A member of the faculty at the University of Cincinnati from 1987 – 2004, she is currently a Professor in the Department of Pediatrics, Cincinnati Children’s Hospital, University of Cincinnati, and the Program Leader for Cancer Biology and Neural Tumors Program in the Cancer and Blood Disorders Institute where she also co-Leads the Rasopathy Program and holds the Beatrice C. Lampkin Endowed Chair in Cancer Biology. She has served on numerous national and international review panels and authored over 100 peer-reviewed manuscripts and 30 reviews. She was awarded the von Recklinghausen Award in 2010, and received a Jacob K. Javits NIH Neuroscience Investigator Award in 2014.

Lars Björn Riecken is heading the preclinical team in the lab of Helen Morrison at the Leibniz Institute on Aging in Jena, Germany. A molecular neurobiologist by training, he has a strong interest in neuronal pathology and oncology, a deep commitment to translational research, and a firm belief in the power of team science. His scientific passion lies in bridging the gap between basic and clinical research by establishing robust, reproducible preclinical models and frameworks that support responsible and high-quality translational efforts. Since 2020, Lars has built and steadily expanded the Morrison lab’s preclinical expertise in the field of nerve regeneration, particularly in the context of neurofibromatosis type 2-related schwannomatosis (NF2-SWN). He has spearheaded the implementation of a study framework aligned with human clinical trial standards and recently completed a multicenter confirmatory preclinical drug trial. His team is now actively advancing a diverse research portfolio, including the development of an NF2-SWN PDX mouse model, therapeutic approaches such as lipid nanoparticle (LNP)-mediated mRNA therapy, and biomarker screening to support future clinical translation.

Lindy Zhang, M.D., Ph.D. is a physician scientist who has completed a fellowship in Pediatric Hematology-Oncology and is joining faculty at the Division of Pediatric Oncology at Johns Hopkins as an Assistant Professor. She completed her medical degree at the Albert Einstein College of Medicine with distinction in clinical research and her pediatric residency at the Johns Hopkins Children’s Center. She then pursued a pediatric hematology-oncology fellowship at the combined Johns Hopkins-National Cancer Institute program. During her fellowship, she received additional translational research training by completing a PhD dissertation in Cellular and Molecular Medicine at the Johns Hopkins University School of Medicine. Her research focuses on NF1-associated tumors and the application of molecularly targeted therapies. Her academic interest is to define the interactions between molecularly targeted agents and the tumor immune microenvironment in malignant peripheral nerve sheath tumors (MPNST) and establish the potential role of immune-based therapies in novel therapeutic combinations in the treatment of patients with MPNST. Her clinical focus is on the care and management of patients with cancer predisposition syndromes and their associated risk for solid tumors.

Amy Comstock Rick, J.D., is CDER’s Associate Director for Rare Disease Strategy and the Director of Strategic Coalitions for FDA’s Rare Disease Innovation Hub (the Hub). She serves in a cross-cutting role across FDA’s Center for Drug Evaluations and Research (CDER) and Center for Biologics Evaluation and Research (CBER) to facilitate implementation of the Hub. She also works closely with both centers to develop and carry out a rare disease strategic agenda. Ms. Rick, with support from staff in CBER’s and CDER’s rare disease programs, is the Hub’s primary point of engagement for parties external to FDA.

Most recently, Ms. Rick served as Principal Consultant at Leavitt Partners, focusing on health policy matters, with a primary focus on rare disease and medical product development. Before Leavitt Partners, she served as President and Chief Executive Officer of the Food and Drug Law Institute (FDLI), a non-profit organization dedicated to providing an innovative, open, balanced exchange of ideas and viewpoints across the field of food and drug law. 

Before joining FDLI, Ms. Rick was Chief Executive Officer of the Parkinson’s Action Network. Ms. Rick also served as President of the Coalition for the Advancement of Medical Research and on the Boards of Directors for Research America, the National Health Council, and the American Brain Coalition.

Ms. Rick had previous federal service as a career attorney at the U.S. Department of Education in 1988, focusing primarily on the field of government ethics. She was the Senate-confirmed Director of the U.S. Office of Government Ethics from 2000 to 2003 and Associate Counsel to the President in the White House Counsel’s Office from 1998 to 2000. She received a bachelor of arts degree from Bard College and a juris doctor degree from the University of Michigan.

Steffen Thirstrup is a medical doctor and board-certified specialist in clinical pharmacology and therapeutics. He holds a PhD in pharmacology and has a long background in clinical internal medicine with special emphasis on adult respiratory medicine. Additionally, Dr. Thirstrup was appointed adjunct professor in pharmacotherapy at the Faculty of Health Sciences, University of Copenhagen, in 2012.From 2004-09 Steffen Thirstrup worked at Danish Medicines Agency first as the Danish member of CHMP at the European Medicines Agency (EMA) for five years including 10 months as joint CHMP- and CAT-member, followed by a short period as head of Danish Institute for Rational Pharmacotherapy dealing with HTA and best practice guidelines for primary care. In 2011 Prof. Thirstrup rejoined the licensing division at the Danish Medicines Agency acting as Head of Division for Medicines Assessment and Clinical Trials. During this period Prof Thirstrup co-chaired the European Commission’s working group on market access for biosimilars medicinal products and acted as key scientific contact for the managing entity of the IMI beneficiaries for the PROTECT collaboration (Pharmacoepidemiological Research on Outcomes of Therapeutics by a European ConsorTium). In March 2013, Prof Thirstrup joined the pharmaceutical consultancy company NDA Group AB as a full-time medical advisor on NDA’s regulatory advisory board. In April 2014 Prof Thirstrup was appointed as director for the Regulatory Advisory Board at NDA Regulatory Services Ltd. Since June 2022 Prof Thirstrup has been the Chief Medical Officer at the European Medicines Agency, Amsterdam, The Netherlands Prof Thirstrup is author of more than 40 scientific papers, guidelines and text-book chapters as well as co- editor of 5th edition of Basal og Klinisk Farmakologi (Medical school pharmacology textbook in Danish). Prof Thirstrup shares his life between Amsterdam and with his family in a small community (Værløse) just outside Copenhagen, Denmark

Julie Tibbets is a partner at Goodwin Procter LLP where she chairs the Life Sciences Regulatory & Compliance practice and co-chairs Goodwin’s Rare Disease Initiative, which is focused on driving education and community networking in the rare disease space in support of accelerating progress for rare disease patients. Julie has practiced over 20 years in private practice counseling clients on FDA regulatory matters. She focuses her practice on FDA-regulated product development, clinical research, product commercialization, marketing and enforcement. Her clients include industry developers, manufacturers, investors, and patient advocacy and research organizations.

Dr. Sylwia Ammoun is currently a Senior Research Fellow at the Peninsula Medical School, University of Plymouth (UK). She earned her PhD in 2005 from Uppsala University, Sweden, where she researched the pharmacology and signalling mechanisms of orexin receptors. In 2006, Dr. Ammoun joined Professor Oliver Hanemann’s laboratory at the University of Plymouth, UK. As a member of the Brain Tumour Research Centre of Excellence, she investigates the pathobiology of NF2-related and sporadic meningiomas and schwannomas, aiming to identify novel therapeutic targets and develop more effective treatments. Her research as an independent researcher has demonstrated that receptors such as MERTK, AXL, PDGFRβ, ErbB2/3, and IGF-IR, along with Human Endogenous Retroviruses (HERVs) and cellular prion proteins, contribute to the pathobiology of schwannoma and meningioma tumours. She is currently investigating the role of the tumour microenvironment and approaches to enhance drug sensitivity. This work has led to key translational outcomes, including one in vivo study and two Phase 0 clinical trials in NF2-related schwannomatosis (NF2-SWN), where she served as co-investigator in one trial, principal investigator in the ongoing trial, and Director of Studies for the in vivo project.

Dr. Ali Bashashati is an Associate Professor with the Department of Pathology and School of Biomedical Engineering at UBC, a Principal Investigator with the Vancouver Coastal Health Research Institute (VCHRI), and Director of Artificial Intelligence and Bioinformatics Research in BC's Ovarian Cancer Research Program. Dr. Bashashati’s research area lies at the interface between computational, engineering and biomedical sciences. He is interested in developing machine-learning algorithms to combine various sources imaging, digital pathology and 'omics data in the context of cancer. Dr. Bashashati aims to improve pathology efficiency, identify new biomarkers for treatment selection and derive biological insights for various health conditions with major emphasis on cancer. He has published extensively in cancer genomics, bioinformatics, computational biology, and machine learning. His papers, cited nearly 20,000 times, have appeared in top-tier journals such as Nature, Nature Genetics, and Nature Medicine

The overarching goal of Jean-Philippe Brosseau lab`s is to develop novel therapeutic for Neurofibromatosis Type I. Over the last 5 years, his lab focused on the role of the extracellular matrix to tumoral progression, the establishment of benign to malignant tumor progression models and the development of NF1 gene therapies. Overall, he has published 29 manuscripts with a total of 1900+ citations.

Garrett Draper is a current PhD candidate in the Largaespada lab developing novel iPSC and mouse models for Neurofibromatosis Type 1 syndrome (NF1). Garrett’s research focuses on developing novel preclinical models of Neurofibromatosis type 1 (NF1) syndrome using induced pluripotent stem cells and transgenic mice models. Using these new models, he aims to better recapitulate the natural history of NF1-related nerve tumors, and uncover unique drug vulnerabilities with the goal of translating his findings to a clinical setting.

Dr. David Gewirtz is a Professor of Pharmacology and Toxicology and member of the Massey Comprehensive Cancer Center at Virginia Commonwealth University. His research for the past four decades has been focused on the nature of the response of solid tumors to chemotherapy and radiation. In particular, he has worked on identifying the role(s) of both autophagy and senescence in limiting the effectiveness of therapeutic strategies. Some of the scientific contributions of his laboratory include the finding that autophagy has multiple functional forms in addition to its cytoprotective function; the existence of an autophagic switch that allows autophagy to change its functional form; that therapy-induced senescence is not irreversible (i.e. that tumor cells that enter into senescence can escape and recover proliferative capacity); that therapy-induced senescence is distinct from replicative senescence in not being a consequence of telomere shortening; studies of senolytic action that can suppress senescence and improve the response to various forms of therapy in preclinical experimental models. His group was one of the first to suggest that senescence might be one form of tumor cell dormancy that is permissive for disease recurrence. He and his colleagues have recently published an article in Cancer Research that evaluates the potential utility of senolytic strategies and the likelihood that these strategies will have clinical ramifications. In previous publications, he has argued that clinical trials of autophagy inhibition have been premature in the absence of more effective and reliable drugs for autophagy inhibition. He and colleagues are currently writing an article that identifies significant issues in the preclinical scientific literature (studies in cell culture and tumor-bearing animals) that are thought to account for the limited applicability of drug-related findings to the clinic. His laboratory has recently initiated studies of the autophagic and senescence responses of solid tumor models to antibody drug conjugates, one of the most promising recently developed class of targeted antitumor drugs.

Angela Hirbe, MD, PhD, is Associate Professor of Medicine and Pediatrics in the Division of Oncology at the Washington University School of Medicine. She is also the Director of the Adult Neurofibromatosis Clinical Program at the Washington University School of Medicine. Clinical Interests: Her interests include oncology, neurofibromatosis-related tumors, sarcoma management, pediatric oncology, and management of cancer predisposition syndromes. Memberships: She is the vice chair of the NCCN Bone Panel and a member of the Children’s Tumor Foundation and SARC Career Development Committee. She is co-chair of the Neurofibromatosis Clinical Trials Consortium MPNST committee, as well as a member of the Children’s Oncology Group, and an elected member of the American Society of Clinical Investigation. Research and Trials: Dr. Hirbe has participated in various clinical trials related to peripheral nerve sheath tumors, MPNST, and NF1. She also runs a basic/translational lab interested in early cancer detection in NF1 and preclinical modeling.

Dr. Kaplan is a physician scientist who developed the concept of the pre-metastatic niche describing the changes in distant microenvironments in response to a growing tumor that create a niche environment conducive to disseminating tumor cell survival and growth resulting in clinically relevant metastasis. Dr. Kaplan has an active translational research program focusing on developing novel biomarkers and targets of the metastatic microenvironment by understanding the commonalities in mechanisms employed by a cancer cell to generate an entire heterogenous tumor at distant sites and stem cells and their niche to repopulate tissues.

Dr. Dana K. Mitchell earned her bachelor’s degrees in psychology and business from Miami University of Ohio. She continued her education at Indiana University School of Medicine, where she completed a master's degree in Anatomy and Cellular Biology before obtaining her Doctor of Medicine. Throughout her career, Dr. Mitchell’s work has been heavily focused in the areas of neuroscience and oncology. As a medical student Dr. Mitchell worked in the lab of Dr. Mahua Dey studying the neuro-immune axis in the setting of malignant brain tumors. Upon graduation from medical school, Dr. Mitchell pursued postdoctoral research at the Herman B. Wells Center for Pediatric Research in the lab of Dr. Wade Clapp. Currently, Dr. Mitchell serves as an Assistant Research Professor in Dr. Clapp’s lab where she conducts translational research focused on the development of novel treatments for patients with Neurofibromatosis type 1 (NF1) and 2 (NF2).

Dr. Moertel is a Professor of Pediatrics at the University of Minnesota and Global Head of Clinical Development for Healx. He holds multiple INDs for the treatment of brain tumors and NF1-associated neoplasia. He has led multiple investigator-initiated clinical trials and contributed to industry and cooperative group sponsored trials for the treatment of childhood brain tumors and neurofibromatosis, type 1. Most recently, he served as the lead investigator for the ReNeu trial, leading to the FDA approval of mirdametinib (Gomekli) for the treatment of NF1-associated plexiform neurofibroma.

Janet Oblinger is a Research Associate in the Center for Childhood Cancer Research of the Abigail Wexner Research Institute at Nationwide Children’s Hospital. (NCH) in Columbus, OH. She earned her BS in biology at Denison University and her PhD in Pathology at The Ohio State University (OSU) with a focus on ganglioside modulation of signal transduction from receptor tyrosine kinases in glioblastoma cells. She took a postdoctoral position in the Neuropathology Division of OSU where she continued studying ganglioside biology of glioma cells and patient tissues. At Nationwide Children’s Hospital, her studies of glial cell biology transitioned to gene therapy for Schwann cells affected by PMP22 mutations that cause Charcot-Marie-Tooth 1A neuropathy. Currently, she is involved in research to better understand the biological mechanisms underlying NF-associated tumors, including MPNST, in the hope that effective therapies can be identified for future clinical trials in this tumor.

Lars Björn Riecken is heading the preclinical team in the lab of Helen Morrison at the Leibniz Institute on Aging in Jena, Germany. A molecular neurobiologist by training, he has a strong interest in neuronal pathology and oncology, a deep commitment to translational research, and a firm belief in the power of team science. His scientific passion lies in bridging the gap between basic and clinical research by establishing robust, reproducible preclinical models and frameworks that support responsible and high-quality translational efforts. Since 2020, Lars has built and steadily expanded the Morrison lab’s preclinical expertise in the field of nerve regeneration, particularly in the context of neurofibromatosis type 2-related schwannomatosis (NF2-SWN). He has spearheaded the implementation of a study framework aligned with human clinical trial standards and recently completed a multicenter confirmatory preclinical drug trial. His team is now actively advancing a diverse research portfolio, including the development of an NF2-SWN PDX mouse model, therapeutic approaches such as lipid nanoparticle (LNP)-mediated mRNA therapy, and biomarker screening to support future clinical translation.

Alexa Sheehan is a PhD candidate in Molecular Medicine at the University of Iowa. In Rebecca Dodd’s lab, her project focuses on characterizing and targeting the microenvironment of MPNSTs, particularly matrix remodeling enzymes and their role in the promotion of metastasis. She is a recipient of the CTF Young Investigator Award for 2023-2025.

Dr. R. Taylor Sundby is a board-certified pediatric hematologist-oncologist and a Research Physician in the Pediatric Oncology Branch of the National Cancer Institute, where his clinical and research work focuses on rare tumors and cancer predisposition syndromes, including neurofibromatosis type 1 (NF1). His research program centers on the discovery, validation, and clinical translation of non-invasive cancer biomarkers to enable early detection and prevention, particularly in individuals with NF1. Dr. Sundby is a Francis S. Collins Scholar and a recipient of the Children’s Cancer Foundation NextGen Award. This summer, he will join Nemours Children’s Hospital and to launch the Integrated Tumor Evolution and Cancer Prevention Lab.

Jeremie Vitte, PhD is a Project Scientist in the Department of Head and Neck Surgery at the David Geffen School of Medicine of the University of California Los Angeles (UCLA). Dr. Vitte received his PhD in Cellular and Molecular Biology in France and worked in the field of neuromuscular (Spinal Muscular Atrophy) and neurodegenerative (Parkinson’s) diseases. Dr. Vitte’s current research in the laboratory of Dr. Giovannini is focused on understanding the molecular and cellular mechanisms underlying tumor development in NF2-related and other types of schwannomatosis, by developing new genetically engineered mouse models as well as performing pre-clinical research and drug testing for these and related tumor predisposition syndromes.

My long-term career goal is to study molecular mechanisms and pathogenesis of human cancer caused by genetic and/or epigenetic alterations and to comprehensively understand the key signaling pathways involved in tumorigenesis. My education, academic training and research experience over the past ten years have prepared me for cancer research, elucidating the pathogenesis of tumors characterized by RAS mutations and by loss of NF1 and thereby identifying effective combination therapies. As an undergraduate, my research focused on isolating genes involved in Hippo signaling pathway, profiling their developmental transcriptions in silk gland and determining the coordinative regulation of apoptosis in silk gland of Bombyx mori during metamorphosis by Hippo signaling and 20-hydroxyecdysone (20E) signaling. As a graduate student, I conducted research on the mechanism and function of the post-translational modification of Drosophila Ultraspiracle (USP). I first identified Ser35 as a protein kinase C (PKC) phosphorylation site in Drosophila USP and demonstrated that this site was crucial for USP phosphorylation and 20E induced transcriptional activity. During my undergraduate and graduate training, I gained an excellent background in multiple biological disciplines including molecular biology, cell biology, developmental biology, microbiology, biochemistry and genetics. My research career continues in earnest with a postdoctoral position at the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine, where I currently work with Dr. Christine Pratilas on regulation of RAS effector signaling pathways in NF1 null and RAS-mutant tumors. My major efforts over the next several years will be to focus on establishing rational combination strategies for NF1 null and RAS-mutant solid tumors. Moreover, I have a long-standing interest in understanding the mechanistic basis of tumor pathogenesis, mechanisms of sensitivity and resistance to anti-cancer drugs, and precision medicine in cancer treatment. The goals of my current research are to translate basic studies on the biochemistry and biology of deregulated RAS effector pathways to develop effective and personalized therapies with agents targeting these pathways, and to identify biomarkers that may facilitate predicting patients who likely benefit from the therapies, aiming to inform future clinical trials and become treatment options for patients based on their genomic alterations.

As chief of NCI’s POB Dr. Widemann oversees and active basic, translational and clinical research program for children and young adults with hematologic and solid malignancies. Dr. Widemann joined the NCI in 1992 as a pediatric hematology oncology fellow after having obtained her MD and completed pediatric residency at the University of Cologne in Germany. Her research has been focused on drug development and early clinical trials for children with refractory solid tumors or genetic tumor predisposition syndromes, in particular neurofibromatosis type 1 (NF1). The work of her research team on NF1 resulted in the first U.S. Food and Drug Administration approved medical therapy, the MEK inhibitor selumetinib, for children with NF1 and inoperable, symptomatic plexiform neurofibroma. She received tenure at the NIH in 2009 and became the Chief of the POB in 2016. Dr. Widemann is a member of the Association of American Physicians and recipient of the AACR- Joseph H. Burchenal Award for Outstanding Achievement in Clinical Cancer Research. She has authored more than 200 original scientific papers, reviews, and book chapters, and has conducted many clinical trials.

Dr. Michael Fisher is Professor of Pediatrics (Perelman School of Medicine at the University of Pennsylvania), Chief of the Neuro-Oncology Section (Division of Oncology), Director of the Neurofibromatosis (NF) Program, and the Hubert J.P. and Anne Faulkner Schoemaker Endowed Chair in Pediatric Neuro-Oncology at The Children's Hospital of Philadelphia. His research focuses on identifying new treatments and novel biomarkers (particularly using new imaging modalities) and exploring functional outcomes for children with tumors associated with NF1. Dr. Fisher is Group Chair of the Steering Committee, and previously was Chair of the Plexiform Neurofibroma Committee, of the Department of Defense NF Clinical Trials Consortium. He is a member of the Steering Committee and former Chair of the Visual Outcomes Committee for REiNS (Response Evaluation in Neurofibromatosis and Schwannomatosis), an international effort to develop standardized outcome measures for clinical trials. In addition, he serves as co-leader of a CTF-funded, international, multi-institutional, prospective longitudinal natural history study of patients with newly diagnosed NF1-associated optic pathway glioma.

Annette Bakker, a Ph.D. in Biochemistry, was an academic researcher for ten years - University Antwerp, Yale Medical School, and the Myology Institute Paris. Following this, she accumulated 15 years of experience in multiple executive leadership positions in Oncology R&D in big pharma and biotech. She holds over 50 publications and 5 patents (https://orcid.org/0000-0001-8420-7831). Motivated by the realization that numerous groundbreaking discoveries fail to translate into clinical benefit, she joined the Children’s Tumor Foundation (CTF) in 2011 to deploy CTF's talent, time, and treasure (TTT) to help bridge the gaps between scientific discoveries and clinical benefits, particularly focusing on neurofibromatosis, a rare genetic disorder. In 2022, she was decorated Officer in the Order of Leopold by the king of Belgium for her bold approach and dedication to improving patients' lives. Annette strongly believes that patient-centric research foundations hold a unique position in the R&D ecosystem. Organizations, such as CTF, are trusted partners for all stakeholders, with the same sense of urgency as the patients. As a FasterCures Changemaker and Chan Zuckerberg Initiative mentor, Annette is deeply committed to constructing an enterprise that not only benefits patients with NF but serves as a model for expediting drug discovery and development within the broader rare disease community.

Dr. Alessandro De Luca is a Clinical Molecular Geneticist with longstanding experience in the field of medical genetics. He holds a PhD in Medical Genetics and a Clinical Laboratory Specialization in Medical Genetics. He currently serves as Head of the Molecular Genetic Diagnostics and Thalassemia Unit at the CSS-Mendel Institute in Rome and collaborates with the IRCCS Casa Sollievo della Sofferenza Hospital in San Giovanni Rotondo. His clinical and research interests are focused on the molecular diagnosis of rare genetic diseases, with particular emphasis on developmental disorders, and neurocutaneous conditions such as neurofibromatosis. Dr. De Luca is widely recognized for his expertise in the application and interpretation of next-generation sequencing technologies data and the integration of genomic data into clinical practice. He is actively involved in international research initiatives and serves as an expert member of ClinGen Variant Curation Expert Panels, including the Neurofibromatoses and Schwannomatosis Panel. His work contributes to the refinement of variant interpretation criteria and the advancement of precision medicine approaches in genetic diagnostics. Dr. De Luca is the author of numerous peer-reviewed publications and has contributed to both national and international guidelines on variant classification. In addition to his research and clinical responsibilities, he is committed to professional training and patient advocacy, working closely with organizations to raise awareness and improve care for individuals with genetic disorders.

Dr. Radhika Dhamija completed her residency training in Pediatric Neurology and fellowship in Medical Genetics at Mayo Clinic, Rochester and is dual boarded in Neurology and Genetics and specializes in the care of children and adults with rare and undiagnosed diseases with a focus on neurogenetics. She is a consultant at Mayo clinic in the department of Clinical Genomic and Neurology and is an Associate Professor of Medical Genetics. She serves as the Associate Program Director and Education Co Chair for Medical Genetics and Genomics residency. As a clinician and scientist, she participates in collaborative projects that lead to understanding the genomic basis of rare diseases in patients. She has interest in neurocutaneous disorders and is the Director of Neurofibromatosis clinic at Mayo Clinic in Rochester and serves as the clinical lead for the ADLD (Autosomal Dominant Leukodystrophy) clinical care center at Mayo providing multi-disciplinary care to this patient population. She has co-authored several manuscripts and book chapters focusing on neurocutaneous syndromes and has over 75 peer reviewed publications

Dr. William A. Gahl graduated from the Massachusetts Institute of Technology and earned his M.D. and Ph.D. from the University of Wisconsin. He served as pediatric resident and chief resident at the University of Wisconsin hospitals and completed clinical genetics and clinical biochemical genetics fellowships at the NIH. Dr. Gahl elucidated the basic defects in cystinosis and Salla disease and helped bring cysteamine to new drug approval by the Food and Drug Administration as the treatment for cystinosis. He has published over 650 papers, reviews, book chapters, and editorials, trained 42 biochemical geneticists and cultivated international experts in Hermansky-Pudlak syndrome, alkaptonuria, Oculocerebrorenal Syndrome of Lowe, Menkes disease, Congenital Disorders of Glycosylation, Griscelli Syndrome, Gray Platelet Syndrome, Joubert Syndrome, polycystic kidney disease and other ciliopathies, Hutchinson-Gilford Progeria, GNE myopathy, oculocutaneous albinism, sialuria, and free sialic acid storage disorders. His group identified the genes responsible for Hartnup disease, Gray Platelet Syndrome, two types of renal Fanconi syndrome, 3-methylglutaconic aciduria type III, a new neutrophil defect, and many other disorders. In 2008, he established the NIH Undiagnosed Diseases Program (UDP), which has made more than 350 rare disease diagnoses and discovered 30 new genetic diseases. Dr. Gahl expanded the UDP to a national Undiagnosed Diseases Network and a worldwide Undiagnosed Diseases Network International. He established American Board of Medical Specialties certification for medical biochemical genetics. Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, the EURORDIS Lifetime Achievement Award, and numerous other awards. In 2019, he was elected to the National Academy of Medicine.

Eric Legius is a clinician scientist. His research was targeted towards neurofibromatosis type 1 and related conditions. He contributed successfully towards the understanding of the molecular aetiology of a number of tumours in neurofibromatosis type 1 (NF1) . He was involved in the identification of the polycomb repressor complex type 2 for the development of malignant peripheral nerve sheath tumours in NF1. In 2007 his research team identified a new condition resembling neurofibromatosis type 1, now known as Legius syndrome (autosomal dominant condition caused by a heterozygous mutation in SPRED1). Eric Legius contributed to the revised diagnostic criteria for NF1, Legius syndrome, and the schwannomatoses (NF2-related, SMARCB1-related, LZTR1-related). He was a senior author on the recent publication of guidelines by the European Reference Network GENTURIS concerning the surveillance and treatment of NF1-related tumours. Eric Legius retired from active patient management in October 2023.

I am a senior consultant neurologist and deputy director of the Dr. Senckenberg Institute of Neuro-Oncology at the University Hospital Frankfurt. My research focus lies in neuro-oncology especially targeted therapies, cellular stress responses and tumor metabolism and I lead the research laboratory of our Institute.

Dr. med. Pia Vaassen is a pediatric clinician. She completed her medical education at RWTH Aachen University. Her neuropediatric residency was completed at Sana Kliniken Duisburg in 2017. Her expertise lies in pediatric neurology, and she works as part of the team led by her mentor, Thorsten Rosenbaum, MD, PhD. Her primary focus is on clinical neurofibromatosis. Since 2022, she has been an active Co-Investigator in the European Selu-PASS St

Katharina Wimmer, is associate professor at the Institute of Human Genetics at the Medical University Innsbruck, Austria, and head of the diagnostic laboratory of the Hereditary Cancer Genetics unit at this institute. She received her PhD in 1994 from the University of Natural Resources and Applied Life Sciences, Vienna, Austria, and, thereafter performed a post-doctorial training in cancer genetics at the Comprehensive Cancer Center, at the University of Michigan in Ann Arbor, MI, USA. Upon returning to Austria, she established in 1998 at the Department of Medical Genetics of the Medical University of Vienna, a molecular onco-genetic diagnostics laboratory starting with transcript analysis-based diagnostics for NF1. Since then, her laboratory has continuously developed the diagnostics of NF1 and later Schwannomatosis and focused on different genetic aspects of NF1, one being the elucidation of basic mechanism of splice site definition by the analysis of genomic variants altering NF1 mRNA splicing. Aiming at identifying the underlying defect in a pediatric cancer patient who was initially suspected to have NF1, she became interested in constitutional mismatch repair deficiency syndrome (CMMRD). This rare autosomal recessively inherited highly penetrant childhood cancer susceptibility syndrome is caused by biallelic pathogenic variants in one of the four DNA mismatch repair (MMR) genes. Children with CMMRD frequently show phenotypic overlap with NF1 and her research group showed that 0.4% of children suspected to have sporadic NF1 without an NF1 or SPRED1 mutation after comprehensive testing have CMMRD. Having developed highly reliable and sensitive protocols for the diagnostics of CMMRD, her lab could substantially contribute to the delineation of the CMMRD phenotype and genotype through a number of collaborations. These collaborative efforts also lead to the formation of the European consortium Care for CMMRD. Among other significant contributions to the field, this consortium together with the European Reference Network GENTURIS developed under the lead of Katharina Wimmer comprehensive guidelines for the diagnosis, surveillance, and management of individuals with CMMRD.

A/Prof Berman is a senior researcher and clinician with extensive experience in the fields of Neurofibromatosis, muscle metabolism and genomics. A/Prof Berman is the head of the NF adult statewide specialised service, and paediatric NF service at Royal North Shore Hospital in Sydney, Australia. Her research interests include; Neurofibromatosis, muscle performance and metabolism, and developing new models of care for service delivery in Clinical Genetics. A/Prof Berman is the President of the Human Genetics Society of Australasia.

Dr. Elefteriou, PhD, is a Professor of Human and Molecular Genetics and Orthopedic Surgery at Baylor College of Medicine in Houston, TX. He received his graduate training at Claude Bernard University in Lyon, France, and completed his postdoctoral fellowship at Baylor College of Medicine. He began his independent research career at Vanderbilt University, where he served as Director of the Vanderbilt Center for Bone Biology. In 2015, he returned to Baylor College of Medicine, where he now serves as Co-Director of both the Baylor Center for Skeletal Medicine and Biology and the Bone Disease Program of Texas. Dr. Elefteriou’s research focuses on skeletal disorders associated with NF1, the interaction between the autonomic nervous system and bone, and the development of the axial and appendicular skeleton. A significant portion of his research has been dedicated to understanding the role of the Nf1 gene in the skeleton. His work has led to the identification of osteoblast progenitor cells as the cell of origin for NF1-associated bone dysplasia, and to the discovery of pyrophosphate as a key factor responsible for the poor mineralization and mechanical properties of NF1 dysplastic bones. The current focus of his laboratory is on addressing the contribution of senescence to the musculoskeletal abnormalities associated with NF1, and on identifying the cells at the origin of NF1 dystrophic scoliosis.

A. Noelle Larson, MD, FAAOS, FAOA, is the chair of the pediatric orthopedic surgery division at the Mayo Clinic. Her interests include spine and bone conditions associated with neurofibromatosis, scoliosis, spine imaging, navigation/robotics, and non-fusion scoliosis surgery. She works to safely innovate and bring new treatments to patients with complex spine conditions. She leads several research studies evaluating posterior dynamic distraction and other scoliosis surgeries and is principal investigator for an FDA study of vertebral body tethering. Dr. Larson completed her undergraduate degree with Honors in Physics at Stanford University, medical degree at the University of Washington, surgical residency at the Mayo Clinic, and fellowship in Pediatric Orthopedics and Scoliosis at Texas Scottish Rite Hospital. She has served as Board Member and Research Council Chair for the Pediatric Orthopedic Society of North America. She holds leadership positions at the Pediatric Spine Study Group and Setting Scoliosis Straight Foundation and has authored over 230 peer-reviewed articles. She is a Professor of Orthopedics at Mayo Clinic. Dr. Larson offers virtual visits and also sees patients in Rochester, Minneapolis, and Twin Cities Shriners, MN.

Dr. Rios received his PhD in genetics from Texas A&M University and completed post-doctoral training at UT Southwestern Medical Center. In 2011, he joined Scottish Rite for Children in Dallas, where he is currently Director of Molecular Genetics within the Research Department and is Associate Professor in the McDermott Center for Human Growth and Development at UT Southwestern. Dr. Rios’ laboratory applies multi-omic methods to investigate the molecular basis of pediatric skeletal manifestations of NF1, with a focus on fracture healing defects known as pseudarthrosis. His laboratory helped to demonstrate that impaired fracture healing in children with NF1 is associated with somatic NF1 gene mutations, and his team has used single-cell and spatial transcriptomics to understand the impact that these somatic mutations have on skeletal stem cell differentiation and mineralization after fracture.

Dr. Tena Rosser is an Associate Professor of Pediatrics and Neurology at the Children’s Hospital Los Angeles which is affiliated with the USC Keck School of Medicine. She is the director of the CHLA Children’s Tumor Foundation-endorsed Neurofibromatosis Clinic which opened in 2005. She is also a member of the Children’s Tumor Foundation’s Clinical Care Advisory Board and the 2015 recipient of CTF Humanitarian Award. Dr. Rosser serves as the Los Angeles site Principal Investigator for the U.S. Army Department of Defense NF Consortium which coordinates multi-center clinical trials for individuals with NF1 and Schwannomatosis. She is a member of the DOD NF Consortium Quality of Life and Neurocognitive Committees. She cares for many children and adults with both NF1 and Schwannomatosis. She is a collaborator on translational NF1 and Schwannomatosis research projects with researchers across the country.

David Stevenson is a Professor of Pediatrics in the Division of Medical Genetics at Stanford University where he sees patients in his NF clinic. He is board certified in both Pediatrics and Medical Genetics and Genomics. He is the service chief for the Division of Medical Genetics at Stanford and Program Director for the Medical Genetics and Genomics Residency Program. Research interests have focused on the musculoskeletal system in syndromes of the Ras/MAPK pathway which has been supported through grants from the NIH, Doris Duke Charitable Foundation, Thrasher Research Fund, and Department of Defense.

Dr. Yohay is an Associate Professor of Neurology and Pediatrics (Clinical) and Director of the NYU Langone Health Comprehensive Neurofibromatosis Center in New York City, one of the largest and most active neurofibromatosis clinics in the United States. After earning his medical degree at the University of Vermont in 1993, he completed his pediatrics and neurology residency at Johns Hopkins Hospital in Baltimore Maryland. While on faculty at Johns Hopkins, he co-founded the Johns Hopkins Neurofibromatosis Center. His medical practice is devoted entirely to the care of children and adults with NF1, NF2 and schwannomatosis. Dr. Yohay’s research career has focused on the development and implementation of new therapeutics for neuro-oncologic and neuro-genetic disorders, including clinical trials for neurofibromatosis. Dr. Yohay was a full member of the CTF CCAB from 2016-2022 and has been a key contributor on several CCAB projects since 2023.

Dr. Kiymet Bozaoglu is a molecular biologist and Team Leader in the Neurogenetics Laboratory at the Murdoch Children's Research Institute in Victoria, Australia. After completing her Ph.D. in 2009, her research has focused on understanding the genetic basis of complex diseases and developing comprehensive molecular approaches to elucidate the underlying mechanisms. Dr. Bozaoglu's current work, supported by the Department of Defense's Congressionally Directed Medical Research Programs, Neurofibromatosis Research Program, New Investigator Award, aims to investigate the molecular mechanisms contributing to neurodevelopmental challenges in Neurofibromatosis Type 1 (NF1). She has established a comprehensive stem cell modeling program that differentiates patient- derived stem cells into cortical neurons and cortical brain organoids, which serve as advanced models for studying NF1. These advanced models combined with cutting-edge structural, functional, and ‘omic’ analyses will allow investigations into how specific NF1 variants contribute to neurodevelopmental problems associated with the condition. Unraveling the underlying pathogenic mechanisms of NF1 is crucial for developing targeted therapies tailored to individuals with NF1-related neurodevelopment disorders. She will present some of this research during her talk at the 2025 NF Conference.

Gemma graduated in Biomedical Science by the University of Barcelona in 2022. In 2023 she coursed the Master’s in Genetics and Genomics by the University of Barcelona, where she performed her Master’s Thesis in the Clinical Genomics Research Group of Germans Trias i Pujol Research Institute with Dra. Elisabeth Castellanos. On September 2023 she started her PhD in the group led by Dra. Castellanos with the objective of continue developing the research that she started during her Master’s Thesis. The aim of her thesis is testing the potential of different strategies of antisense gene therapy for NF2-related Schwannomatosis, working with an iPSC-based model.

Dr. Liang Hu earned MD from Huazhong University of Science and Technology, completing his oncology residency there before pursuing his PhD at the University of Southern California in Los Angeles. Now at Cincinnati Children's Hospital Medical Center, his research focuses on NF1/RAS pathways and developing targeted therapies for NF1/RAS-associated tumors.

The Lukkes lab has two main focuses for pre-clinical research: 1) acquiring a functional understanding of the impact of social isolation, during the developmentally critical period of adolescence, on stress-related neurocircuitry and behavior, and 2) investigating the molecular mechanisms underlying the pathophysiology of Attention-Deficit Hyperactivity Disorder (ADHD) utilizing the Neurofibromatosis type 1 (NF1) experimental model. We do preclinical research with rodents to better understand how stress during adolescence increases risk for the development of neuropsychiatric disorders and addiction. We are also using a novel mouse model of NF1 to identify biochemical pathways and molecular targets in the pathophysiology of NF1-mediated behavioral and cognitive disruptions as well as other similar genetic syndromes. The lab utilizes the following strategies: development and use of animal models of psychiatric disorders, coupled with cell- and region-specific assessment of behavior via optogenetics and electrophysiology (in vitro and in vivo), and genetic deletion or pharmacological blockade of critical proteins within these regions.

I am a neurobiologist interested in the cognitive symptoms of neurofibromatosis type 1 (NF1) and other Rasopathy syndromes, which involve altered cell signaling by the Ras family of small GTPases. My laboratory at Cincinnati Children’s Hospital and the University of Cincinnati College of Medicine investigates the structure and function of neural circuits involved in reward, motivation, and attention in mouse models of NF1 and Noonan syndrome using advanced systems neuroscience technologies. These include genetically encoded calcium and neurotransmitter sensors, optogenetics, electrophysiological methods, and viral vector-based circuit mapping techniques. Additionally, my team is working to develop adeno-associated virus (AAV) gene therapies to restore normal brain and peripheral nervous system function in NF1. These efforts and future research plans are shaped by my strong interest in improving children's lives through translational neuroscience. My lab is funded by the National Institute of Neurological Disorders and Stroke, the Gilbert Family Foundation Gene Therapy Initiative, the Simons Foundation Autism Research Initiative, etc. Previously, I received a bachelor’s degree from Georgetown University in 2007, followed by an MD and PhD from the Medical Scientist Training Program at the University of North Carolina at Chapel Hill in 2016. I was a post-doctoral fellow in the laboratory of Dr. Viviana Gradinaru at Caltech from 2016-2020, where I studied dopaminergic circuit dysfunction in NF1 and was a Children’s Tumor Foundation Young Investigator Awardee. I joined the faculty of the Division of Experimental Hematology and Cancer Biology in the Department of Pediatrics at Cincinnati Children’s Hospital in 2020.

Sasha Scott, PhD is a rare disease research scientist at Sage Bionetworks, a nonprofit biomedical research institute. She received her PhD from Washington University in Saint Louis, where she studied the tissue-specific effects of genomic structural variation on human gene expression. During her postdoctoral training at Sage Bionetworks, Dr. Scott established and directed the Schwannomatosis Open Research Collaborative. This community-based computational research project brought together diverse scientists from around the world in an effort to utilize publicly available -omics data to better understand disease etiology and heterogeneity in non-NF2-related schwannomatosis. The majority of Dr. Scott’s research focuses on enabling and applying rigorous -omics analysis of neurofibromatosis data to extract actionable disease information, with the broader goal of promoting open science approaches in rare disease biomedical research.

Miriam Smith, PhD is a molecular geneticist based at the University of Manchester, UK. She received her bachelor’s degree in Molecular and Cellular Biology from the University of Bath and her PhD in Molecular Neuroscience from University College London School of Pharmacy, before taking research positions at the Brigham and Women’s Hospital, Massachusetts General Hospital/Harvard Medical School, and The University of Manchester. She subsequently joined the faculty at The University of Manchester in 2013. The major focus of her research group is improving our understanding of how pathogenic variants in schwannomatosis related genes cause the development of schwannoma and meningioma tumours.

Seth Tomchik received his bachelor’s degree in Psychology and Ph.D. in Biology from the University of Miami. He conducted postdoctoral research at the Baylor College of Medicine. Following his postdoctoral research, he started his lab at Scripps Research in 2012. In 2022, he moved to the University of Iowa Carver College of Medicine, where he is the Roy J. Carver Professor of Neuroscience and Associate Director of the Iowa Neuroscience Institute. His research focuses on mechanisms of learning and memory, as well as how genetic disorders affect brain function and metabolism. Recent research from the lab has identified mechanisms of neuronal dysfunction and metabolic alterations in neurofibromatosis type 1.

Dr. Ahlawat earned a Bachelor of Arts with magna cum laude at New York University. After conclusion of her Medical Degree as well as Diagnostic Radiology Residency at Rutgers University’s Robert Wood Johnson Medical School in New Brunswick, NJ, Dr. Ahlawat completed her Pediatric Radiology Fellowship at the Children’s National Medical Center followed by Musculoskeletal Imaging Radiology at the Johns Hopkins University. After completion of her fellowship, Dr. Ahlawat joined as faculty in the Diagnostic Division of the Department of Radiology at the Johns Hopkins University. Currently, Dr. Shivani Ahlawat is an Associate Professor at the Russell H. Morgan Department of Radiology and Radiological Science in Johns Hopkins School of Medicine and also serves as the musculoskeletal imaging fellowship director at Johns Hopkins. Dr. Ahlawat’s clinical and research activities focus on high resolution magnetic resonance imaging (MRI) of peripheral nerves, specifically the detection and characterization of peripheral nerve injury and MR imaging of peripheral nerve tumors, particularly in the setting of peripheral nerve tumor syndromes. Her areas of interest include whole body MRI in the setting of Neurofibromatosis type 1 (NF1), NF2, and schwannomatosis with emphasis on quantitative, non-contrast MRI techniques such as diffusion weighted imaging and apparent diffusion coefficient mapping in characterization of bone and soft tissue tumors.

Sophia Carias, BA, is a clinical research coordinator at The Family Center for Neurofibromatosis and Schwannomatosis at Massachusetts General Hospital and an incoming medical student at Duke University School of Medicine.

Dr. Radhika Dhamija completed her residency training in Pediatric Neurology and fellowship in Medical Genetics at Mayo Clinic, Rochester and is dual boarded in Neurology and Genetics and specializes in the care of children and adults with rare and undiagnosed diseases with a focus on neurogenetics. She is a consultant at Mayo clinic in the department of Clinical Genomic and Neurology and is an Associate Professor of Medical Genetics. She serves as the Associate Program Director and Education Co Chair for Medical Genetics and Genomics residency. As a clinician and scientist, she participates in collaborative projects that lead to understanding the genomic basis of rare diseases in patients. She has interest in neurocutaneous disorders and is the Director of Neurofibromatosis clinic at Mayo Clinic in Rochester and serves as the clinical lead for the ADLD (Autosomal Dominant Leukodystrophy) clinical care center at Mayo providing multi-disciplinary care to this patient population. She has co-authored several manuscripts and book chapters focusing on neurocutaneous syndromes and has over 75 peer reviewed publications

Angela Hirbe, MD, PhD, is Associate Professor of Medicine and Pediatrics in the Division of Oncology at the Washington University School of Medicine. She is also the Director of the Adult Neurofibromatosis Clinical Program at the Washington University School of Medicine. Clinical Interests: Her interests include oncology, neurofibromatosis-related tumors, sarcoma management, pediatric oncology, and management of cancer predisposition syndromes. Memberships: She is the vice chair of the NCCN Bone Panel and a member of the Children’s Tumor Foundation and SARC Career Development Committee. She is co-chair of the Neurofibromatosis Clinical Trials Consortium MPNST committee, as well as a member of the Children’s Oncology Group, and an elected member of the American Society of Clinical Investigation. Research and Trials: Dr. Hirbe has participated in various clinical trials related to peripheral nerve sheath tumors, MPNST, and NF1. She also runs a basic/translational lab interested in early cancer detection in NF1 and preclinical modeling.

Dr. Yang Hou is an assistant professor in the Department of Behavioral Sciences and Social Medicine and Director of the Development, Environment, and Resilience (DEaR) Lab at the College of Medicine, Florida State University. She earned her Ph.D. in Human Development and Family Sciences from the University of Texas at Austin and completed postdoctoral training in Health Psychology and Neurobehavioral Research at the National Cancer Institute. Dr. Hou's research focuses on the biopsychosocial factors influencing neurobehavioral development—including cognitive, academic, socioemotional, and behavioral domains—among underrepresented groups, particularly families affected by rare diseases such as Neurofibromatosis Type 1 (NF1). Her current work leverages innovative and advanced quantitative methods to uncover patterns and predictors of neurobehavioral development across the lifespan in individuals with NF1, with the ultimate goal of designing interventions to improve their neurobehavioral functioning. Committed to advancing the NF field, Dr. Hou fosters collaborative efforts and promotes open science practices to accelerate discovery. She has published over 50 peer-reviewed journal articles, and her research has been supported by the U.S. Department of Defense and the Children’s Tumor Foundation. Her contributions to science have been recognized with numerous international accolades, including the Rising Star Award from the Association for Psychological Science and the Early Career Outstanding Paper Award from the American Psychological Association.

Mandi Johnson is a Clinical Research Coordinator at the Johns Hopkins Department of Dermatology Cutaneous Translational Research Program.

BEOM HEE LEE (M.D., Ph.D.) is a Pediatrician and Medical Geneticist at Asan Medical Center, Seoul, Korea. Also serve as a Professor at University of Ulsan College of Medicine, Seoul, Korea. He participated in multiple clinical trials with focus studies on rare genetic disorder such as Neurofibromatosis, Lateralized overgrowth syndrome, Fatty acid oxidation disorder and Lysosomal storage disorders. He has presented and published at least 160 scientific papers in reputable journal and scientific meetings.

Dr. Kotch is an Assistant Professor of Pediatrics at the University of Pennsylvania and a Neuro-Oncologist at the Children’s Hospital of Philadelphia. She completed her pediatrics residency at Johns Hopkins Hospital and hematology/oncology and neuro-oncology fellowships at the Children’s Hospital of Philadelphia. Her additional training includes a Master of Clinical Epidemiology and Biostatistics from the University of Pennsylvania. She is a Francis S. Collins Scholar in NF Clinical and Translational Research with a clinical research program focused on improving outcomes for individuals with NF1-associated tumors through advanced epidemiologic methods and interventional clinical trials.

Scott Plotkin, MD, PhD, is Giovanni Armenise Professor of Neurology at Harvard Medical School and is the Executive Director of Stephen E. and Catherine Pappas Center for Neuro-Oncology at Massachusetts General Hospital. Dr. Plotkin’s research is focused on designing clinical trials for persons with genetic tumor syndromes such as neurofibromatosis (NF) and schwannomatosis (SWN). He is particularly interested in novel trial designs for rare diseases and in new approaches to gene therapy for monogenic disorders. He has served as principal investigator on single and multi-center clinical trials and is an active member of several national consortia. In 2011, he co-founded the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration. This collaboration has published consensus recommendations for clinical trial endpoints in trials for NF and SWN patients and continues to work closely with the Food and Drug Administration, European Medicines Agency, and other agencies. He is the principal investigator on multiple federal grants that support a range of projects from running clinical trials to training physician scientists to advancing health care for patients.

Natalie Stec, MD, is a senior neuro-oncology fellow at Massachusetts General Brigham/Dana-Farber Cancer Institute. Her clinical research focus is on NF2-related schwannomatosis. She earned her medical degree from the Medical University of Gdańsk in Poland and completed her neurology residency at Henry Ford Hospital in Detroit, Michigan. Dr. Stec will be joining Maine Medical Center as an attending neuro-oncologist.

Dr. Jaishri Blakeley is the Marjorie Bloomberg Tiven Professor of Neurofibromatosis in Neurology, Oncology and Neurosurgery at Johns Hopkins School of Medicine, director of the Johns Hopkins Comprehensive Neurofibromatosis Center (JHCNC) and director of the Neurofibromatosis Therapeutic Acceleration Program (NTAP). She is an active clinician scientist with research expertise in the development of clinical trials for nervous system tumors. Specifically, her expertise is in early clinical-translational studies including tumor pharmacokinetic and pharmacodynamic investigations, imaging biomarkers for rare nervous system tumors and incorporation of patient focused, functional endpoints into efficacy studies. She has been the national or international leader of seven clinical trials focused on therapies for glioblastoma, Neurofibromatosis Type 2 (NF2) and Neurofibromatosis Type 1 (NF1). In 2012 she cofounded the Neurofibromatosis Therapeutic Acceleration Program (NTAP) to dramatically shift the landscape of NF1 clinical care via necessary, efficient and expert discovery, translational and clinical research. NTAP focuses on therapeutics, fosters collaboration, facilitates open and timely sharing of results, and streamlines the research process to accelerate therapies for plexiform and cutaneous neurofibromas. Through NTAP, Dr. Blakeley has supported and collaborated with more than 60 laboratories and research teams across the globe enabling meaningful therapeutic development for NF1 associated neoplasms. The results have been a transformation of the research landscape for both plexiform and cutaneous neurofibromas, including contribution to the development of MEKi inhibitors and device based treatments for these tumors. In addition, NTAP has facilitated a culture of team science that supports all stakeholders in the research process and maximizes the value of each investigation and contributor. Her research and programmatic efforts are all in the service of improving outcomes for the patients with NF1, the schwannomatoses and primary brain cancer for whom she is honored to provide care.